IthaID: 3286
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 61 AAG>TAG [Lys>STOP] | HGVS Name: | HBA2:c.184A>T |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The mutation causes a premature termination of translation, likely leading to nonsense-mediated degradation mRNA or a truncated and unstable protein product.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34076 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liang Y, Peng Q, Li M, Li S, Li W, Lu X, A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T., Hemoglobin , 2017
- Tian Q, Lei YL, Xu LL, Li DZ, First Report of Nondeletional Hb H Disease Caused by an α2-Globin Gene Mutation: : c.184A>T., Hemoglobin, 45(3), 210-211, 2021
Created on 2017-12-19 16:56:13,
Last reviewed on 2022-08-24 11:04:55 (Show full history)
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